NBIA Disorders Association board awards nearly $160,000 in grants

The NBIA Disorders Association board chose three projects among 19 applications to receive grants totaling $157,725 this year, enabling researchers to study three different forms of NBIA.

The grants will further research into Pantothenate Kinase-Associated Neurodegeneration, or PKAN, Mitochondrial-membrane Protein-Associated Neurodegeneration, known as MPAN, and Beta-propeller Protein-Associated Neurodegeneration, or BPAN.

In addition to these grants, the board also designated 30,000 euros, or approximately $32,400, for use in an upcoming NBIA Alliance joint research project. That work is being finalized and more details will be forthcoming.

Dr. Suh Young Jeong in her lab at Oregon Health & Science University. Jeong received a $45,000 grant for PKAN research.

Meanwhile, here’s a closer look at the three awards: Dr. Suh Young Jeong, a postdoctoral research fellow at the Oregon Health & Science University, received $45,000 for her proposal titled, “Mitochondrial dysfunction and hypoxia induce unused iron accumulation in PKAN.”

In this project, she hypothesizes that both reduced oxygen (hypoxia) and unhealthy mitochondria will cause metabolic changes in cells with PANK2 mutations. She will test whether these changes cause abnormal iron accumulation in cells, and whether a pantothenate derivative can help prevent these changes to keep cells healthy.

”These experiments will be performed using precious primary cell lines generated from each patient’s blood and skin donations,” Jeong said. “We sincerely appreciate every patient who participated in donating these samples for our research.”

Our second grant for $44,965 went to Dr. Ana Messias, working with Drs. Arie Geerlof and Arcangela Iuso from the Helmholtz Center Munich, Germany, for the project titled, “Functional and druggability analysis of C19orf12 using a structure-based approach.”

This continues work from a previous grant our organization awarded last year on MPAN. The research focuses on the study of the C19orf12, a protein of unknown function, whose mutations are linked to MPAN. The scientists want to understand what the protein does by studying its three-dimensional structure. In last year’s study, the researchers came up with a preliminary structure of the C19orf12 protein. They showed that several MPAN mutants exhibit significant structural rearrangements and lower stability, which might explain the impaired activity of the protein.

In this new grant, the researchers propose to obtain a better structural model and extend the studies to the full-length protein. They expect that to help them unravel what C19orf12 protein does in the body, namely byusing software analysis to compare the protein structure with others that have known functions. They will also do biochemical testing of possible functions for the protein.

The goal is to understand how mutations lead to disease and, ultimately, uncover possible therapies for patients with MPAN. The findings from this study will allow the researchers to seek larger funding for MPAN research from other sources.

From left to right: Kathrin Bach, Drs. Arie Geerlof, Ana Messias and Arcangela Iuso from the Helmholtz Center Munich, Germany, received a $44,965 grant from our organization for their work on MPAN.

Our third grant was awarded to Dr. Holger Prokisch, from the Institute of Human Genetics at the Technical University of Munich, in Germany, for the grant titled, “Characterization of the first knock-out mouse model for BPAN.” This is a two year project and totals $67,760.

Dr. Holger Prokisch and Caroline Biagosh, a graduate doctoral student,from the Institute of Human Genetics at the Technical Universityof Munich, in Germany, Their grant for $67,760 is for BPAN research.

Prokisch is working closely with Caroline Biagosch, a doctoral graduate student also at the Institute of Human Genetics.

They aim to establish a mouse model that will be studied for up to two years and show them when disease progression begins in the mice and what happens clinically. This will enhance understanding of the changes that occur in the brain, the cell, mitochondria and spheroids of the BPAN mouse.

“The development of the BPAN mouse model will provide an exciting model for the further investigation of the disease mechanism, as well as a means by which novel therapeutic approaches can be tested,” Biagosch said.

The organization initially did not have enough money to award this grant in June. We announced grant awards at our family conference in Minneapolis and told participants that we wished we could fund a third grant, but were unable to do so because we needed $40,000 more.

Several of the BPAN families attending the conference spearheaded efforts to raise the additional funds and came up with the $40,000 in just over a month.

Prokisch said he is grateful to the families for their hard work. “I feel this is something very special to work on a disease and be supported by the patients and their families,” he said. “This will give us all an extra boost of motivation. Thanks a lot for this.”